Machado-Joseph Disease: from first descriptions to new perspectives.
about
Small molecule probes to quantify the functional fraction of a specific protein in a cell with minimal folding equilibrium shiftsInterrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencingParkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.Clinical manifestations and gene mutation in a case of Machado-Joseph disease.Association between proton magnetic resonance spectroscopy measurements and CAG repeat number in patients with spinocerebellar ataxias 2, 3, or 6Sodium valproate alleviates neurodegeneration in SCA3/MJD via suppressing apoptosis and rescuing the hypoacetylation levels of histone H3 and H4Hsp104 suppresses polyglutamine-induced degeneration post onset in a drosophila MJD/SCA3 model.Atypical presentation of late-onset Tay-Sachs diseaseInsights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.Toward understanding Machado-Joseph diseaseEpidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.Induced pluripotent stem cells to model and treat neurogenetic disordersPsychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutationAtaxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 modelsNystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).Cerebellar TMS in treatment of a patient with cerebellar ataxia: evidence from clinical, biomechanics and neurophysiological assessments.Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease).Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.Parkinsonism and inborn errors of metabolism.Exploring the power of yeast to model aging and age-related neurodegenerative disorders.Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation.Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations.Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.Genetics: Utility of next-generation sequencing in ataxias.The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.Lithium chloride alleviates neurodegeneration partly by inhibiting activity of GSK3β in a SCA3 Drosophila model.Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).MicroRNA profiling in the serums of SCA3/MJD patients.Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)
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Machado-Joseph Disease: from first descriptions to new perspectives.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
name
Machado-Joseph Disease: from first descriptions to new perspectives
@nl
Machado-Joseph Disease: from first descriptions to new perspectives.
@ast
Machado-Joseph Disease: from first descriptions to new perspectives.
@en
Machado-Joseph Disease: from first descriptions to new perspectives.
@en-gb
type
label
Machado-Joseph Disease: from first descriptions to new perspectives
@nl
Machado-Joseph Disease: from first descriptions to new perspectives.
@ast
Machado-Joseph Disease: from first descriptions to new perspectives.
@en
Machado-Joseph Disease: from first descriptions to new perspectives.
@en-gb
prefLabel
Machado-Joseph Disease: from first descriptions to new perspectives
@nl
Machado-Joseph Disease: from first descriptions to new perspectives.
@ast
Machado-Joseph Disease: from first descriptions to new perspectives.
@en
Machado-Joseph Disease: from first descriptions to new perspectives.
@en-gb
P2860
P356
P1476
Machado-Joseph Disease: from first descriptions to new perspectives
@en
P2093
Conceição Bettencourt
P2860
P2888
P356
10.1186/1750-1172-6-35
P407
P5008
P577
2011-06-02T00:00:00Z
P5875
P6179
1047099346